Search results for "metabolic"

showing 10 items of 2205 documents

Prevalence and determinants of non-alcoholic fatty liver disease in lifelines: A large Dutch population cohort

2017

BACKGROUND & AIMS Non-alcoholic fatty liver disease is an increasing health issue that develops rather unnoticed with obesity, type 2 diabetes mellitus and metabolic syndrome. We investigated prevalence, determinants and associated metabolic abnormalities of non-alcoholic fatty liver disease in the largest population-based cohort to date. METHODS Biochemical characteristics, type 2 diabetes mellitus and metabolic syndrome were determined in the Lifelines Cohort Study (N = 167,729), a population-based cohort in the North of the Netherlands. Non-alcoholic fatty liver disease was defined as Fatty Liver Index (FLI)≥60. Exclusion criteria were age <18 years, immigrants, missing data to assess FL…

0301 basic medicineMaleCirrhosislcsh:MedicineGastroenterologyBiochemistryGLOMERULAR-FILTRATION-RATESTEATOHEPATITISWhite Blood Cells0302 clinical medicineEndocrinologyNon-alcoholic Fatty Liver DiseaseRisk FactorsAnimal CellsPrevalenceMedicine and Health SciencesDiabetes diagnosis and managementlcsh:ScienceNetherlandsMETABOLIC SYNDROME2. Zero hungerINSULIN-RESISTANCEMultidisciplinaryLiver DiseasesFatty liverMiddle AgedLipids3. Good healthType 2 DiabetesCholesterolHypertension030211 gastroenterology & hepatologyFemaleAnatomyCellular TypesResearch ArticleAdultmedicine.medical_specialtyHbA1cEndocrine DisordersImmune CellsImmunologyUNITED-STATESGastroenterology and Hepatology03 medical and health sciencesInsulin resistanceInternal medicineDiabetes mellitusmedicineDiabetes MellitusHumansHemoglobinHEPATIC STEATOSISHepatitisBlood Cellsbusiness.industryCholesterol HDLlcsh:RType 2 Diabetes MellitusBiology and Life SciencesProteinsRenal SystemCell Biologymedicine.diseaseDiagnostic medicineFatty LiverSERUM CREATININE VALUESRENAL-DISEASE030104 developmental biologyEndocrinologyCross-Sectional StudiesDiabetes Mellitus Type 2ATHEROSCLEROSISHyperglycemiaMetabolic DisordersRISK-FACTORSlcsh:QSteatohepatitisMetabolic syndromebusiness
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Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.

2021

International audience; Background: Recent years have witnessed a considerable increase in clinical trials of new investigational agents for Fabry disease (FD). Several trials investigating different agents are currently in progress; however, lack of standardisation results in challenges to interpretation and comparison. To facilitate the standardisation of investigational programs, we have developed a common framework for future clinical trials in FD.Methods and findings: A broad consensus regarding clinical outcomes and ways to measure them was obtained via the Delphi methodology. 35 FD clinical experts from 4 continents, representing 3389 FD patients, participated in 3 rounds of Delphi p…

0301 basic medicineMaleDelphi TechniqueEndocrinology Diabetes and Metabolism[SDV]Life Sciences [q-bio]Delphi methodDisease030105 genetics & heredityKidneyBiochemistry0302 clinical medicineEndocrinologyClinical outcomesClinical Trials as TopicGlobosidesTrihexosylceramidesMiddle Aged3. Good healthClinical trialIsoenzymesTreatment OutcomeInclusion and exclusion criteriaSecondary Outcome MeasureFemaleAdultmedicine.medical_specialtyConsensusLysosomal storage disorders03 medical and health sciencesQuality of life (healthcare)Inherited metabolic disordersGeneticsmedicineHumansEnzyme Replacement TherapyIntensive care medicineMolecular BiologyFabry diseaseSphingolipidsbusiness.industryClinical study designmedicine.diseaseFabry diseaseClinical trialDelphi consensusalpha-GalactosidaseQuality of LifeFabry DiseaseGlycolipidsbusiness030217 neurology & neurosurgeryMolecular genetics and metabolism
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Oxidative and endoplasmic reticulum stress is impaired in leukocytes from metabolically unhealthy vs healthy obese individuals.

2017

BACKGROUND: Oxidative stress and inflammation are related to obesity, but the influence of metabolic disturbances on these parameters and their relationship with endoplasmic reticulum (ER) stress is unknown. Therefore, this study was performed to evaluate whether metabolic profile influences ER and oxidative stress in an obese population with/without comorbidities. SUBJECTS AND METHODS: A total of 113 obese patients were enrolled in the study; 29 were metabolically healthy (MHO), 53 were metabolically abnormal (MAO) and 31 had type 2 diabetes (MADO). We assessed metabolic parameters, proinflammatory cytokines (TNF alpha and IL-6), mitochondrial and total reactive oxygen species (ROS) produc…

0301 basic medicineMaleEndocrinology Diabetes and MetabolismMedicine (miscellaneous)Blood Pressuremedicine.disease_causeBody Mass Index0302 clinical medicineLeukocytesEndoplasmic Reticulum Chaperone BiPchemistry.chemical_classificationMetabolic SyndromeNutrition and DieteticsMiddle AgedEndoplasmic Reticulum StressCytokinesFemalemedicine.symptomOxidation-ReductionAdultmedicine.medical_specialtyBlotting Western030209 endocrinology & metabolismInflammationOxidative phosphorylation03 medical and health sciencesYoung AdultInsulin resistanceInternal medicinemedicineHumansObesityAgedDyslipidemiasInflammationReactive oxygen speciesObesity Metabolically Benignbusiness.industryEndoplasmic reticulummedicine.diseaseOxidative Stress030104 developmental biologyEndocrinologychemistryMetabolic syndromeInsulin ResistancebusinessReactive Oxygen SpeciesBody mass indexOxidative stressInternational journal of obesity (2005)
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Prolonged sleep restriction induces changes in pathways involved in cholesterol metabolism and inflammatory responses

2016

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0301 basic medicineMaleEpidemiologyPhysiologychemistry.chemical_compoundinsufficient sleep0302 clinical medicineHigh-density lipoproteinFinlandSleep restrictionGENERAL-POPULATIONINSULIN-RESISTANCEeducation.field_of_studyMultidisciplinarytulehdusCARDIOVASCULAR RISKGLUCOSE-METABOLISMta3142Chronic inflammationMiddle AgedSleep in non-human animals3. Good healthSleep deprivationCholesterolMetabolomeFemalemedicine.symptomAdultmedicine.medical_specialtyACUTE-PHASE RESPONSELIVER-X-RECEPTORSPopulationBiologyta3111Articlesleep restriction03 medical and health sciencesInsulin resistanceMetabolic DiseasesInternal medicinemedicineMetabolomeHumansCORONARY-HEART-DISEASEeducationLiver X receptorDyslipidaemiasAgedCASSETTE TRANSPORTER G1Gene Expression Profilingta1182ta3121medicine.diseaseSleep deprivation030104 developmental biologyEndocrinologychemistryinflammationcholesterol metabolismSleep Deprivation3111 BiomedicineGene expressionHIGH-DENSITY-LIPOPROTEIN030217 neurology & neurosurgeryBlood Chemical AnalysisScientific Reports
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Transthyretin familial amyloid polyneuropathy (TTR‐FAP): Parameters for early diagnosis

2017

Abstract Background Familial transthyretin amyloidosis is a life‐threatening disease presenting with sensorimotor and autonomic polyneuropathy. Delayed diagnosis has a detrimental effect on treatment and prognosis. To facilitate diagnosis, we analyzed data patterns of patients with transthyretin familial amyloid polyneuropathy (TTR‐FAP) and compared them to polyneuropathies of different etiology for clinical and electrophysiological discriminators. Methods Twenty‐four patients with TTR‐FAP and 48 patients with diabetic polyneuropathy (dPNP) were investigated (neurological impairment score NIS; neurological disability score NDS) in a cross‐sectional design. Both groups were matched for gende…

0301 basic medicineMaleGastroenterologyCohort StudiesBehavioral Neuroscience0302 clinical medicineDiabetic NeuropathiesHeart RateMedicineHeart rate variabilityUlnar nerveOriginal ResearchNeurologic ExaminationUnivariate analysisbiologyAmyloidosisMiddle Agedmedicine.anatomical_structureHyperalgesiaUpper limbFemaleautonomic functionPolyneuropathyAdultmedicine.medical_specialtyTTR‐FAPPainAutonomic Nervous SystemDiagnosis Differential03 medical and health sciencesPolyneuropathiesInternal medicineHumansAgedamyloidosisAmyloid Neuropathies Familialbusiness.industrynutritional and metabolic diseasesmedicine.diseaseHandTransthyretin030104 developmental biologyCross-Sectional StudiesEarly DiagnosisEtiologybiology.proteinpolyneuropathyneurophysiologybusinessHereditary Sensory and Motor Neuropathy030217 neurology & neurosurgeryBrain and Behavior
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Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations

2016

This work was supported by Spanish Ministry of Economy and Competitiveness (MINECO) Grants SAF2010-16044 and SAF2013-46663-R (to V.A.), SAF2011-30312 and SAF2014-58286-C2-1-R (to L.H.-M.), SAF2011-30088 (to E.D.), and SAF2014-52413-R (to C.L.-O.) and Fondo de Investigación Sanitaria del Instituto de Salud Carlos III Grants RD12/0042/0028 (to V.A.), RD12/0042/0011 (to J.T.), and RD12/0042/0002 (to L.H.-M.), with cofunding from the Fondo Europeo de Desarrollo Regional and the Progeria Research Foundation. J.A.G. is the recipient of a U-Mobility Grant from the Marie Curie cofunding of Regional, National and International Programme (Grant 246550). The Instituto Universitario de Oncología is sup…

0301 basic medicineMaleHutchinson–Gilford progeria syndrome calcium handling connexin43 prelamin A progerinElectrònica en cardiologia030204 cardiovascular system & hematologyPathogenesisCiencias Biomedicas0302 clinical medicineProgeriaCardiac Conduction System DiseasefisiologiapatologíaTecnología médicaChildCiencias médicasMice KnockoutProgeriaprelamin AMultidisciplinaryintegumentary systemMetalloendopeptidasesHeartProgerinHutchinson-Gilford progeria syndrome3. Good health:Enginyeria biomèdica::Electrònica biomèdica::Electrònica en cardiologia [Àrees temàtiques de la UPC]Sarcoplasmic Reticulummedicine.anatomical_structurePNAS PlusChild Preschoolcardiovascular systemNuclear laminaFemalemedicine.symptomBradycardiaAdultmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesAdolescentBiology03 medical and health sciencesQRS complexYoung AdultElectrònica mèdicaInternal medicinemedicineAnimalsHumansPR intervalHutchinson–Gilford progeria syndromeNuclear LaminaMyocardiumMembrane Proteinsnutritional and metabolic diseasesArrhythmias Cardiacmedicine.diseaseMedical electronicsconnexin43Mice Inbred C57BL030104 developmental biologyEndocrinologyVentricleprogerinConnexin 43calcium handlingsistema cardiovascularCalcium
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Functional Interactions between Gut Microbiota Transplantation, Quercetin, and High-Fat Diet Determine Non-Alcoholic Fatty Liver Disease Development …

2019

Scope Modulation of intestinal microbiota has emerged as a new therapeutic approach for non-alcoholic fatty liver disease (NAFLD). Herein, it is addressed whether gut microbiota modulation by quercetin and intestinal microbiota transplantation can influence NAFLD development. Methods and results Gut microbiota donor mice are selected according to their response to high-fat diet (HFD) and quercetin in terms of obesity and NAFLD-related biomarkers. Germ-free recipients displayed metabolic phenotypic differences derived from interactions between microbiota transplanted, diets, and quercetin. Based on the evaluation of hallmark characteristics of NAFLD, it is found that gut microbiota transplan…

0301 basic medicineMaleInflammasomesmedicine.medical_treatmentBiologyGut floraDiet High-Fatdigestive system03 medical and health scienceschemistry.chemical_compoundVerrucomicrobiaNon-alcoholic Fatty Liver DiseasemedicineAnimalsObesity030109 nutrition & dieteticsPrebioticdigestive oral and skin physiologyFatty livernutritional and metabolic diseasesAkkermansiaFecal Microbiota Transplantationbiology.organism_classificationmedicine.diseaseFatty Acids VolatileObesityPhenotypedigestive system diseasesEndotoxemiaGastrointestinal MicrobiomeTransplantationMice Inbred C57BL030104 developmental biologychemistryLiverImmunologyQuercetinInsulin ResistanceQuercetinFood ScienceBiotechnologyMolecular nutritionfood research
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Pistachio Consumption Alleviates Inflammation and Improves Gut Microbiota Composition in Mice Fed a High-Fat Diet.

2019

High-fat diet (HFD) induces inflammation and microbial dysbiosis, which are components of the metabolic syndrome. Nutritional strategies can be a valid tool to prevent metabolic and inflammatory diseases. The aim of the present study was to evaluate if the chronic intake of pistachio prevents obesity-associated inflammation and dysbiosis in HFD-fed mice. Three groups of male mice (four weeks old

0301 basic medicineMaleInterleukin-1betaAdipose tissueGut floralcsh:ChemistryMice0302 clinical medicineLactobacilluslcsh:QH301-705.5SpectroscopyChemokine CCL2biologydigestive oral and skin physiologyfood and beveragesGeneral Medicinepistachio intakeobesity-related inflammation pistachio intake gut microbiota HFD mice adipose tissueComputer Science Applicationsadipose tissueLiverPistacialipids (amino acids peptides and proteins)medicine.symptomhormones hormone substitutes and hormone antagonistsmedicine.medical_specialty030209 endocrinology & metabolismInflammationDiet High-FatCatalysisArticleInorganic Chemistry03 medical and health sciencesInternal medicineobesity-related inflammationmedicineAnimalsHFD miceObesityPhysical and Theoretical ChemistryMolecular BiologyFecesgut microbiotaTumor Necrosis Factor-alphaOrganic Chemistrynutritional and metabolic diseasesmedicine.diseasebiology.organism_classificationObesityGastrointestinal MicrobiomeMice Inbred C57BL030104 developmental biologyEndocrinologylcsh:Biology (General)lcsh:QD1-999DysbiosisMetabolic syndromeDysbiosisDiet TherapyInternational journal of molecular sciences
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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

2019

Contains fulltext : 202646.pdf (Publisher’s version ) (Open Access) By using exome sequencing and a gene matching approach, we identified de novo and inherited pathogenic variants in KDM3B in 14 unrelated individuals and three affected parents with varying degrees of intellectual disability (ID) or developmental delay (DD) and short stature. The individuals share additional phenotypic features that include feeding difficulties in infancy, joint hypermobility, and characteristic facial features such as a wide mouth, a pointed chin, long ears, and a low columella. Notably, two individuals developed cancer, acute myeloid leukemia and Hodgkin lymphoma, in childhood. KDM3B encodes for a histone …

0301 basic medicineMaleJumonji Domain-Containing Histone DemethylasesDevelopmental DisabilitiesWEAVER SYNDROMEPROTEINHaploinsufficiencyCraniofacial AbnormalitiesHistones0302 clinical medicineIntellectual disabilityTumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]Missense mutationDEMETHYLASE KDM3BExomeChildGenetics (clinical)Exome sequencingGeneticsRUBINSTEIN-TAYBI SYNDROMEMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]Phenotype030220 oncology & carcinogenesisFemalemedicine.symptomHaploinsufficiencyRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Joint hypermobilityGENETICSJMJD1CMutation MissenseDwarfismBiologyShort statureKdm3b ; Cancer Predisposition ; Developmental Delay ; Facial Recognition ; Intellectual Disability ; Leukemia ; Lymphoma ; Short Stature03 medical and health sciencesReportIntellectual DisabilitymedicineHumansMYELOID-LEUKEMIAGenetic Association StudiesGerm-Line MutationWeaver syndromeNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Rubinstein–Taybi syndromeMUTATIONSDELETIONGenetic Variationmedicine.diseaseBody HeightMusculoskeletal AbnormalitiesINDIVIDUALS030104 developmental biologyFaceNanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]American Journal of Human Genetics
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Sugar-sweetened and artificially-sweetened beverages and changes in cognitive function in the SUN project.

2019

Background: Sugar-sweetened beverages (SSB) and artificially-sweetened beverages (ASB) have been inconsistently associated with declines in cognitive function. Because of their low caloric content ...

0301 basic medicineMaleMedicine (miscellaneous)Neuropsychological Tests03 medical and health sciences0302 clinical medicineCognitionmedicineDementiaHumansCognitive DysfunctionFood scienceLongitudinal StudiesProspective StudiesSugarAgedSugar-Sweetened Beverages030109 nutrition & dieteticsNutrition and Dieteticsbusiness.industryGeneral Neurosciencedigestive oral and skin physiologyArtificially Sweetened Beveragesnutritional and metabolic diseasesfood and beveragesCaloric theoryCognitionGeneral MedicineMiddle Agedmedicine.diseasestomatognathic diseasesSpainbusinesshuman activities030217 neurology & neurosurgeryNutritional neuroscience
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